Variant report

Variant	rs1625050
Chromosome Location	chr8:42765132-42765133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42748537..42752958-chr8:42763640..42765702,3	MCF-7	breast:
2	chr8:42750720..42756430-chr8:42762967..42765897,6	K562	blood:

Variant related genes	Relation type
ENSG00000168172	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000266044	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10087388	0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10107370	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10107916	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1081884	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1081885	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1081886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986893	0.86[CHB][hapmap]
rs13261180	1.00[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1620525	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1648119	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1648120	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1648121	0.90[JPT][hapmap];0.84[MEX][hapmap]
rs16891647	1.00[MEX][hapmap]
rs2042674	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2376489	0.84[AMR][1000 genomes]
rs2692077	0.91[ASN][1000 genomes]
rs28539345	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28688473	0.95[EUR][1000 genomes]
rs3867147	0.87[AMR][1000 genomes]
rs4236927	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes]
rs4512420	1.00[CEU][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs4737080	0.90[AMR][1000 genomes]
rs6474429	0.81[JPT][hapmap];0.84[MEX][hapmap]
rs6986338	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7001861	1.00[ASW][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes]
rs7012985	0.85[AMR][1000 genomes]
rs7016673	0.82[AMR][1000 genomes]
rs773068	0.81[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs773069	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs773070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs773071	1.00[ASN][1000 genomes]
rs773072	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812948	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7815800	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7819737	0.85[AMR][1000 genomes]
rs7825957	0.85[EUR][1000 genomes]
rs7831069	0.85[ASN][1000 genomes]
rs7835435	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs798827	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
3	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:42753600-42771800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
4	chr8:42754000-42768400	Weak transcription	Fetal Kidney	kidney
5	chr8:42754000-42769600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:42754000-42771000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:42754000-42771200	Weak transcription	Small Intestine	intestine
8	chr8:42754000-42771800	Weak transcription	Aorta	Aorta
9	chr8:42754000-42772000	Weak transcription	Colonic Mucosa	Colon
10	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
11	chr8:42754200-42768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:42754200-42771000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:42754200-42771400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:42754400-42765200	Weak transcription	Osteobl	bone
16	chr8:42754400-42772000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:42754600-42771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:42754600-42772000	Weak transcription	Ovary	ovary
20	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
21	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:42755000-42766200	Weak transcription	Fetal Stomach	stomach
23	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
24	chr8:42755400-42765600	Weak transcription	Fetal Lung	lung
25	chr8:42755400-42765800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:42756200-42765600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:42756200-42775000	Weak transcription	Right Ventricle	heart
29	chr8:42756200-42775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:42756400-42768800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:42756400-42771000	Weak transcription	Left Ventricle	heart
32	chr8:42756400-42771200	Weak transcription	Right Atrium	heart
33	chr8:42756400-42771800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:42757200-42772000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:42757400-42765400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:42757400-42770400	Weak transcription	Psoas Muscle	Psoas
37	chr8:42757600-42767600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:42757600-42775000	Weak transcription	Fetal Heart	heart
39	chr8:42758200-42765600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:42758200-42771600	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:42758200-42775400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:42758400-42766200	Weak transcription	Fetal Intestine Small	intestine
43	chr8:42758400-42768800	Weak transcription	Brain Substantia Nigra	brain
44	chr8:42758400-42769000	Weak transcription	Fetal Intestine Large	intestine
45	chr8:42758400-42771400	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:42759400-42771000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:42759400-42771800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:42759800-42781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:42760000-42766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:42760200-42765600	Weak transcription	Muscle Satellite Cultured Cells	--

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